Wednesday, September 10, 2008

What a journey!

While I have been packing and getting ready for this trip my mind keeps going back to what a long journey it was to find such a wonderful hospital like the NIH. When Collin was born he was two months premature, tiny, and looked as if he had been burnt in a fire. My sweet baby was fighting from the second that he came into this world. They had to intibate him because he could not breath on his own. I was unable to see him because of health problems I was having. Jason brought me a picture of him and he didn’t have the breathing tube. Jason could tell that I was puzzled. He told me that our sweet little fighter had extibated himself and pulled the very long tube out and was breathing fine on his own. From that moment I knew that Collin was a fighter. If he was going to fight that hard then I knew that I had to fight just as hard for him. Collin had had his first surgery at five moths old but it wasn’t until someone at church made a comment to me that I realized how long this road would be. A very sweet sister, that my children now call grandma, said to me “I am so sorry that your son has cerebral palsy”. I told her “oh it’s ok” and shrugged it off not realizing exactly the impact that statement would mean and the journey it would send me on. You might be asking why this woman would be certified or be so bold as to make a comment like that. Well, she has two children of her own that are severely handicap. After I got home from church I got on the computer and goggled cerebral palsy. I sat staring at my computer screen in tears. There it was in black and white. Every time I had asked the doctors about something they would just reassure me that it was just because he was premature. I printed out the information and took it to Collin’s pediatrician’s office with me and showed it to him and told him that I think my son has this. His reply will forever stay with me. “Yes, I’ve known this for a while but I didn’t want to overwhelm you.” WHAT!!!!! I got up and walked right out of his office. Shortly after I found a good doctor who helped me get Collin’s started on physical therapy, occupational therapy, speech, and vision therapy.


I was also referred to an AMAZING neurologist and this is wear the true journey began. A journey to put a name to what was wrong with my child. This beautiful doctor told me that she believed Collin had to many “issues” hair, skin, eyes, small stature, ect. For it to just be a coincidence. So, my journey began. I first took a long ride on the blue line to take Collin to LA children’s hospital to see their genetic team. They took blood and did full panels on him. They gave up when they got the results back. It was just to much for them. Then I took Collin to UCLA hospital to see their genetic team. They too were baffled as to what Collin had. They told me that think he might have one illness but were not sure. So, from there I took Collin to Cedar Sinai hospital. There was a doctor on their genetic team that knew a lot about the illness UCLA thought Collin had. As soon as the doctor walked into the room and took one look at Collin he said no he does not have it. How ever this journey took a huge turn that day. This brilliant team of doctors left the room and with in thirty minutes came back and said we think that your son has this… showing me a small paragraph from a text book. Trichothiodystrophy…. “How do you say this?” The doctors then told me to just call it TTD. They knew nothing about this illness other than what they had read from the text book and because of this they did not feel comfortable diagnosing him. I went home happy to have something but it was not enough. It really didn’t tell me anything. So, from there I called NORD National organization for Rare Diseases and asked them if they had any information on TTD. They did!! With in a couple of weeks I received this huge packet of information. I didn’t even understand most of it because it was research that was being done on patients with TTD. On the foot notes of the research there was the doctors name and hospital. So, I did what any other mom would do. I called 411 and asked for the hospital’s phone number. I then called the hospital and asked for this doctor. I left a message on his voice mail something along the lines of “hi my name is… the doctors here think that my son has TTD. I found the research that you are doing and was wondering if you could please call me back with some more information.” I had no idea if the doctor would actually call me back. BUT he did!! The team of doctors ant he NIH worked with the team of doctors at Cedar Sinai to get skin biopsies, hair samples, and other tests. Once these tests were done the doctors back east called and said “ Yes, we are pretty sure your son had TTD. When would you like to come out?” That first trip was scary not knowing what to expect but after three years of searching my son finally had a diagnosis. It is a very scary, heart breaking, and awful diagnosis BUT at least we knew something! At least it had a name. There is a lot that is still unknown about TTD and they are still doing lots of research. There are less than a hundred known diagnosed cases of TTD in the world. So, being able to fly to Maryland and see a team of doctors that have seen other patients with TTD is such a blessing.



I know that this is turning into a book but I wanted to share a very special experience with this story. When Collin was around two years old Elder Hales was visiting our area and heard about Collin. He offered to give him a blessing. We were all very excited about this!!! If anyone could make my son better it would be an apostle of the Lord…. right?? Jason, our family, and myself went into this experience in fasting and prayer. I had faith that he could make him better. Well, the day came and did not bless Collin with a long life or with good health. He blessed him that the right doctors would come into his life. I did not understand this blessing one bit at the time. I have to admit that deep down I was even a little disappointed. However, I could not deny the overwhelming spirit that filled the room that day. When Elder Hales was leaving he wrapped his arms around me and said “Sister Presley be like Job.. Be like Job.” I treasure that day now looking back. What an inspired man. I am so grateful that we have had the right doctors come into Collin’s life. I never knew what a HUGE blessing that would be.


Please continue to keep Collin in your prayers. Thank you so much!! BIG HUGS!!

7 comments:

the peine's said...

Julie- that gave me the chills. Good luck back east. Aren't blessing just amaizng?

Kristin said...

You are so strong, what a neat blessing.I will keep you all in my thoughts and prayers for your long trip!

Mandy said...

Wow what an amazing story! Thanks for the tears--I will just blame it on the pregnancy though :) My thoughts are that the Lord is extremely aware of these special spirits and guides us, their parents to the things they will need the most. When my husband graduated from college we moved into an apartment just down the street from a school we didn't quite know what it was. It had a seminary and a pool and a playground. Unbeknown to us we had moved into the ONE district in the state of UT that has the best special needs program. And we moved into a house 2 miles away. I pray that Collin stays healthy so you can travel and that he will be able to tolerate all the tests he will be having done!

Amy & Kyle said...

crying our eyes out. We love you guys and of course we'll keep that sweet stud in our prayers.

love,
amy and bev

suzy's jewels and gem said...

Your stength inspires me! We all have angels watching over us... but you have a little more to keep you going. Anyway... i served in the Baltimore maryland mission. You are going at a beautiful time,the leaves are changing and oh the beautiful green trees. I hope you can find sometime to do something special while you are there. I will be thinking of you!
BIG HUGS,
Suz

j said...

Hi Jules.
I am so glad you visited my blog as i had lost all my connections & missed hearing about Colin & Regan so much.
As ever you are such an inspiration to any parent & your family are truly blessed to have such a wonderful mum,wife,sister,daughter,auntie & most of all a firm believer.
Your are all in our thought & prayers at all times.Please give Colin & Regan a hug from us here in Ireland :):):)

Hugs
Jean

Christamae said...

What a strong family! I hope your hospital visit goes well!